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Gene: Arid1b MGI:1926129

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Gene Summary

Name:
AT-rich interaction domain 1B
Synonyms:
9330189K18Rik,  B230217J03Rik

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Arid1btm1b(EUCOMM)Hmgu HOM Early adult 0.00
increased freezing behavior Arid1bem1(IMPC)Tcp HET Early adult 4.01×10-06
increased circulating creatinine level Arid1bem1(IMPC)Tcp HET Early adult 9.38×10-05
decreased exploration in new environment Arid1bem1(IMPC)Tcp HET Early adult 7.22×10-06
decreased prepulse inhibition Arid1bem1(IMPC)Tcp HET Early adult 5.81×10-12
impaired cued conditioning behavior Arid1bem1(IMPC)Tcp HET Early adult 2.89×10-05
abnormal spleen morphology Arid1bem1(IMPC)Tcp HET Early adult 0.00
edema Arid1bem1(IMPC)Tcp HOM E15.5 0.00
abnormal freezing behavior Arid1bem1(IMPC)Tcp HET Early adult 1.02×10-05
preweaning lethality, complete penetrance Arid1bem1(IMPC)Tcp HOM   Early adult 0.00
decreased locomotor activity Arid1bem1(IMPC)Tcp HET   Early adult 2.18×10-07
preweaning lethality, incomplete penetrance Arid1btm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased fasting circulating glucose level Arid1bem1(IMPC)Tcp HET Early adult 1.15×10-05

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

22 Images

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X-ray

XRay Images Skull Lateral Orientation

22 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Forepaw

12 Images

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DSS Histology

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

22 Images

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Eye Morphology

Images Slit Lamp

1 Images

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Anti-nuclear antibody assay

Images

6 Images

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Gross Morphology Embryo E14.5-E15.5

Images

8 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Histopathology

Images

1 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

5 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

5 Images

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Ear epidermis immunophenotyping

Images

12 Images

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Human diseases caused by Arid1b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Arid1b by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
6Q25 Microdeletion Syndrome
Short stature, Microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly ORPHA:251056
Coffin-Siris Syndrome
Hyperactivity, Ventricular septal defect, Hypospadias, Microcephaly, Aggressive behavior, Postnat... ORPHA:1465
Coffin-Siris Syndrome 1
Hydroureter, Ventricular septal defect, Hypospadias, Short stature, Ectopic kidney, Microcephaly,... OMIM:135900

The table below shows human diseases predicted to be associated to Arid1b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lipedema
Edema OMIM:614103
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Impaired social interactions, Compulsive behaviors OMIM:618830
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Ataxia, Hydrocephalus, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, ... OMIM:618709
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Pineocytoma
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... ORPHA:251912
Intellectual Developmental Disorder, Autosomal Recessive 66
Gait ataxia, Shyness, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:618221
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:617787
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus, Cognitive impairment ORPHA:2807
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608631
N-Acetylaspartate Deficiency
Short attention span, Truncal ataxia, Decreased body weight, Abnormal repetitive mannerisms, Self... OMIM:614063
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Atypical Teratoid Rhabdoid Tumor
Irritability, Hydrocephalus, Ataxia ORPHA:99966
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Autism
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:209850
Autism, Susceptibility To, 8
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:607373
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Impaired ability to form peer relationships, Impaired social interactions, ... OMIM:608636
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures
Dystonia, Ataxia, Aggressive behavior, Chorea, Inappropriate laughter, Bruxism, Abnormal repetiti... OMIM:619150
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Pick Disease Of Brain
Frontotemporal dementia, Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotion... OMIM:172700
Behavioral Variant Of Frontotemporal Dementia
Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Frontotemporal dementia, ... ORPHA:275864
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Chudley-Mccullough Syndrome
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of... OMIM:604213
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Hand tremor, Gait ataxia, Dysphagia, Recurrent hand flapping, Abnormal repetitive mannerisms, Ven... OMIM:617862
Meningioma
Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolactin concent... ORPHA:2495
Alg13-Cdg
Abnormal lateral ventricle morphology, Cognitive impairment, Decreased body weight ORPHA:324422
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Leukoencephalopathy, Progressive, With Ovarian Failure
Ataxia, Hand tremor, Depression, Lateral ventricle dilatation, Dementia, Dystonia OMIM:615889
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior OMIM:617171
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Intellectual Developmental Disorder With Autism And Speech Delay
Abnormal repetitive mannerisms, Impaired social interactions OMIM:606053
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... OMIM:613670
Foxg1 Syndrome
Dystonia, Abnormal repetitive mannerisms, Choreoathetosis, Impaired social interactions, Bruxism,... ORPHA:561854
1Q21.1 Microduplication Syndrome
Hydrocephalus, Failure to thrive, Attention deficit hyperactivity disorder ORPHA:250994
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Autism, Susceptibility To, X-Linked 3
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300496
Autism, Susceptibility To, X-Linked 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300425
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Aggressive behavior, Tremor, Hydrocephalus, Abnormal repetitive mannerisms OMIM:619470
Nasu-Hakola Disease
Hydrocephalus, Chorea, Frontal lobe dementia, Irritability, Disinhibition, Memory impairment, Ven... ORPHA:2770
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Restlessness, Aggressive behavior, Frontotemporal dementia, Inappropriate behavior, Disinhibition... OMIM:600795
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Inappropriate behavior, Cog... ORPHA:309246
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Hsd10 Disease
Short attention span, Ataxia, Tremor, Choreoathetosis, Dysphagia, Abnormal social behavior, Ventr... ORPHA:391417
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L... ORPHA:98807
Pyknoachondrogenesis
Stillbirth OMIM:265880
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Memory impairment, Hydrocephalus ORPHA:1008
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:93924
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Short stature, Microce... ORPHA:220386
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:620065
Magel2-Related Prader-Willi-Like Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Short stature, Impulsivity, Precoc... ORPHA:398069
Lymphatic Malformation 3
Lymphedema OMIM:613480
Sim1-Related Prader-Willi-Like Syndrome
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... ORPHA:398079
Intellectual Developmental Disorder, Autosomal Recessive 58
Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms OMIM:617270
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Central Neurocytoma
Pain insensitivity, Abnormal lateral ventricle morphology, Ataxia, Hydrocephalus, Depression, Par... ORPHA:73256
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Abnormal social behavior ORPHA:436151
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Megalencephaly, Hydrocephalus, Thick corpus callosum, Polymicrogyria, Ventriculomegaly OMIM:615938
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:231720
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Gómez-López-Hernández Syndrome
Hydrocephalus, Ataxia, Cognitive impairment, Impaired pain sensation ORPHA:1532
Glycosylphosphatidylinositol Biosynthesis Defect 17
Aggressive behavior, Dysplastic corpus callosum, Growth delay, Primary microcephaly, Overfriendli... OMIM:618010
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Central Precocious Puberty In Male
Hydrocephalus, Hypothalamic hamartoma, Attention deficit hyperactivity disorder, Aggressive behavior ORPHA:649929
Papillary Tumor Of The Pineal Region
Hydrocephalus, Cognitive impairment, Episodic ataxia, Memory impairment, Increased CSF protein co... ORPHA:251915
White Sponge Nevus 2
Edema OMIM:615785
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Failu... OMIM:618276
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder OMIM:617028
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Aggressive behavior, Euphoria, Frontal lobe dementia, Lateral ventricle dilatation, Inappropriate... OMIM:221770
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Pancytopenia, Hypoglycemia, Elevated circulating creatinine concentration, Increase... OMIM:617872
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Normal pressure hydrocephalus, Kinetic tremor, Ventriculomegaly OMIM:611808
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hydrocephalus, Hemimegalencephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventriculom... OMIM:615937
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Frontotemporal dementia, Disinhibition, Dysphagia, Emotional lability, Abnormal repetitive manner... OMIM:612069
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive
Self-injurious behavior, Abnormal repetitive mannerisms, Impaired social interactions, Dystonia OMIM:617820
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I... ORPHA:3077
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Megalencephaly, Autosomal Dominant
Hydrocephalus OMIM:155350
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Impaired vibratory sensation, Restless legs, Somatic sensory dysfunction, Postural tremor, Impair... ORPHA:99947
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Chorea, Attention deficit hyperactivity disorder, Dystonia, Dilated third... OMIM:619725
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome
Hydrocephalus, Subcortical cerebral atrophy, Cerebral cortical atrophy, Cerebral cortical hemiatr... ORPHA:2703
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Masa Syndrome
Short stature, Microcephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:303350
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Pontocerebellar Hypoplasia, Type 11
Ataxia, Abnormal repetitive mannerisms, Limb ataxia, Self-injurious behavior, Attention deficit h... OMIM:617695
Thyrotropin-Releasing Hormone Deficiency
Hypothalamic hypothyroidism, Hypothyroidism, Muscle weakness, Short stature OMIM:275120
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Attention deficit hyperactivity disorder ORPHA:261102
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Obesity, Attention deficit hyperactivity disorder, Compulsive behaviors, Ab... ORPHA:444002
Craniofacial Conodysplasia
Hydrocephalus ORPHA:85168
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Short attention span, Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity... OMIM:618342
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Restlessness, Hyperactivity, Aggressive behavior, Hydrocephalus, Agitation OMIM:300558
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... ORPHA:100924
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Gait ataxia, Ch... OMIM:619580
2,4-Dienoyl-Coa Reductase Deficiency
Poor head control, Microcephaly, Hydrocephalus, Ophthalmoplegia, Cerebral atrophy, Increased CSF ... OMIM:616034
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Developmental And Epileptic Encephalopathy 36
Hydrocephalus, Self-mutilation OMIM:300884
Lymphatic Malformation 10
Lymphedema OMIM:619369
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Irritability, Decreased serum creatinine, Decreased ci... OMIM:300539
Christianson Syndrome
Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repe... ORPHA:85278
Kleine-Levin Syndrome
Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit... ORPHA:33543
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Abnormal heart morphology, Small cerebral cortex, Colp... ORPHA:2185
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Irritability, Failure to thrive, Abnormal repetitive mannerisms OMIM:617393
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Hypospadias, Cardiomegaly, Dysplastic corpus callosum, Perimembranous ... OMIM:620135
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Fried Syndrome
Hydrocephalus, Aggressive behavior ORPHA:85335
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Hydrocephalus, Dandy-Walker malformation ORPHA:1538
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Ventriculomegaly, Poor head control, Hydrocephalus, Simplified gyral p... OMIM:613153
Pontocerebellar Hypoplasia, Type 15
Hydrocephalus, Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Simplified g... OMIM:619302
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Intellectual Developmental Disorder, Autosomal Dominant 56
Bradyphrenia, Short attention span, Dystonia, Ataxia, Impulsivity, Lateral ventricle dilatation, ... OMIM:617854
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... OMIM:620317
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Ataxia, Aggr... OMIM:612736
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Repetitive compulsive behavior, Hypersexuality, Frontotemporal dementia, Lateral ventricle dilata... OMIM:607485
Stxbp1-Related Encephalopathy
Hyperactivity, Dysplastic corpus callosum, Cerebral white matter atrophy ORPHA:599373
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Hemiparkinsonism-Hemiatrophy Syndrome
Tremor, Lateral ventricle dilatation, Dystonia, Depression ORPHA:306669
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures
Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618906
Developmental And Epileptic Encephalopathy 107
Abnormal repetitive mannerisms OMIM:620033
Spastic Paraplegia 45, Autosomal Recessive
Dysplastic corpus callosum, Hypoplasia of the corpus callosum OMIM:613162
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia, Elevated circulating creatinine concentration, Abnorm... ORPHA:275555
Intellectual Developmental Disorder, Autosomal Dominant 39
Aggressive behavior, Hydrocephalus, Obesity, Polyphagia, Self-mutilation OMIM:616521
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ... OMIM:609637
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Ataxia, Confusion, Agitation, Cognitive impairment, Emotional lability, Failure to thrive, Abnorm... ORPHA:927
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Cognitive impairment, Attention deficit hyperactivity disorder, Abn... ORPHA:300573
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Band Heterotopia
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... OMIM:600348
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Developmental And Epileptic Encephalopathy 58
Abnormal repetitive mannerisms OMIM:617830
Alexander Disease Type I
Ataxia, Cachexia, Hydrocephalus, Dysphagia, Failure to thrive ORPHA:363717
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Agitation, Disinhibition, Semantic dementia, Memory impairment, Abno... ORPHA:1020
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive OMIM:129850
Baker-Gordon Syndrome
Ataxia, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitive mannerisms OMIM:618218
Congenital Toxoplasmosis
Hydrocephalus, Failure to thrive in infancy, Ventriculomegaly, Cognitive impairment ORPHA:858
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... OMIM:618718
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Progressive language deterioration, Impaired social i... OMIM:610042
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Short attention span, Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention defici... OMIM:620242
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Short attention span, Hyperactivity, Aggressive behavior, Shyness, Depression, Self-injurious beh... ORPHA:449291
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Confusion, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thromb... ORPHA:54057
Nephronophthisis-Like Nephropathy 2
Polydipsia, Elevated circulating creatinine concentration OMIM:619468
Cortical Dysplasia, Complex, With Other Brain Malformations 2
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:615282
Dandy-Walker Syndrome
Dilated fourth ventricle, Hydrocephalus, Truncal ataxia OMIM:220200
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Chorea, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dystonia, Abnormal repetitive... OMIM:618917
Hereditary Geniospasm
Abnormal social behavior, Intention tremor ORPHA:53372
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Autism Spectrum Disorder Due To Auts2 Deficiency
Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Compulsive behaviors, A... ORPHA:352490
Beemer Lethal Malformation Syndrome
Hydrocephalus OMIM:209970
Temple Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Short stature, ... ORPHA:254516
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Hydrocephalus OMIM:266100
Severe Intellectual Disability And Progressive Spastic Paraplegia
Overweight, Dystonia, Abnormal repetitive mannerisms, Shyness ORPHA:280763
Craniofacial Dyssynostosis With Short Stature
Ventricular septal defect, Hypospadias, Short stature, Hydrocephalus, Horseshoe kidney, Hypoplasi... OMIM:218350
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Dementia, Progressive language deterioration, Cognitive impairment, Dysphagia, Emotio... ORPHA:79264
Hydrocephalus, Autosomal Dominant
Hydrocephalus, Dandy-Walker malformation OMIM:123155
Cach Syndrome
Progressive neurologic deterioration, Truncal ataxia, Dysmetria, Limb ataxia, Irritability, Later... ORPHA:135
Autism, Susceptibility To, X-Linked 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:300495
Congenital Disorder Of Glycosylation, Type Iid
Hydrocephalus, Dandy-Walker malformation OMIM:607091
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Melanosis, Neurocutaneous
Mental deterioration, Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation OMIM:249400
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi... ORPHA:1528
Diencephalic Syndrome
Cachexia, Hydrocephalus, Long penis, Decreased body weight, Abnormality of the hypothalamus-pitui... ORPHA:1672
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Myelomeningocele, Attention deficit hyperactivit... OMIM:620141
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Hydrocephalus, Attention deficit hyperactivity disorder, Failure to th... OMIM:609757
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Progressive neurologic deterioration, Nodular regenerative hyperplasia of live... ORPHA:247691
Methylmalonic Acidemia With Homocystinuria
Hydrocephalus, Failure to thrive ORPHA:26
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... OMIM:617600
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Short attention span, Exaggerated startle response, Chorea, Irritability, Failure to thrive OMIM:617864
48,Xxyy Syndrome
Ataxia, Tremor, Obesity, Depression, Attention deficit hyperactivity disorder, Abnormal repetitiv... ORPHA:10
Lissencephaly Due To Tuba1A Mutation
Dilated fourth ventricle, Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsul... ORPHA:171680
Intellectual Developmental Disorder, Autosomal Dominant 7
Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Inappropriate lau... OMIM:614104
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle, Progressive neurologic deterioration OMIM:620315
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Ventriculomegaly, Ataxia, Hydrocephalus, Inappropriate laughter, Cognitive impairment, Mental det... OMIM:618476
Xq28 (MECP2) duplication
Gait ataxia, Depression, Dysphagia, Failure to thrive, Abnormal repetitive mannerisms DECIPHER:45
Glutaryl-Coa Dehydrogenase Deficiency
Communicating hydrocephalus, Limb dystonia, Dystonia, Ataxia, Tremor, Chorea, Dysphagia, Athetosi... ORPHA:25
Aromatic L-Amino Acid Decarboxylase Deficiency
Exaggerated startle response, Torticollis, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... OMIM:608643
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Pain insensitivity, Aggressive behavior, Attention deficit hyperactivity disorder, Obsessive-comp... OMIM:618825
Biemond Syndrome Type 2
Hypogonadotropic hypogonadism, Hypospadias, Short stature, Hydrocephalus, Obesity, Hypogonadism, ... ORPHA:141333
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Short stature, Hydrocephalus, Obesity, Mitral valve prolapse, Abn... ORPHA:2183
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Ventriculomegaly, Short stature, Microcephaly, Aggressive behavior, Hydrocephalus, Irritability, ... OMIM:619833
Developmental And Epileptic Encephalopathy 30
Abnormal repetitive mannerisms OMIM:616341
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Microcephaly, Pachygyria, Dysplastic corpus callosum, Simplified gyral pattern, St... OMIM:619179
Corpus Callosum, Partial Agenesis Of, X-Linked
Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of the corpus ca... OMIM:304100
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Microcephaly, Hydrocephalus, Periventricular leukomalacia, Muscle weak... OMIM:618302
Congenital Muscular Dystrophy With Cerebellar Involvement
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Microcephaly, Proximal muscl... ORPHA:370959
Krabbe Disease
Failure to thrive, Hydrocephalus, Motor deterioration, Increased CSF protein concentration OMIM:245200
Coach Syndrome 2
Congenital hepatic fibrosis, Portal fibrosis, Elevated circulating creatinine concentration, Hepa... OMIM:619111
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Abnormal repetitive mannerisms, Ventricul... OMIM:613443
Chiari Malformation Type Ii
Ataxia, Spina bifida, Hydrocephalus, Myelomeningocele, Opisthotonus, Cervical myelopathy, Dysphag... OMIM:207950
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Hyperuricemia, Anemia, Neutropenia OMIM:617056
Intellectual Developmental Disorder, Autosomal Dominant 65
Ataxia, Aggressive behavior, Noncommunicating hydrocephalus, Attention deficit hyperactivity diso... OMIM:619320
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Paroxysmal dystonia, Depression, Cognitive impairment, Attention deficit hyperactivity disorder, ... ORPHA:98784
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Patent foramen ovale, Vesicoureteral reflux, Re... OMIM:616854
Mucolipidosis Iv
Dysplastic corpus callosum, Hypergastrinemia, Cerebral dysmyelination, Microcephaly OMIM:252650
Shukla-Vernon Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Impulsivity, Aggressive... OMIM:301029
Lopes-Maciel-Rodan Syndrome
Dystonia, Tremor, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms OMIM:617435
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Brunet-Wagner Neurodevelopmental Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms OMIM:619690
Interstitial Nephritis, Karyomegalic
Glycosuria, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Hand tremor, Limb ataxia, Lateral ventricle dilatation, Dysphagia OMIM:607596
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Emotional lability, Depressi... ORPHA:309271
Proximal 16P11.2 Microdeletion Syndrome
Dystonia, Obesity, Choreoathetosis, Impaired social interactions, Attention deficit hyperactivity... ORPHA:261197
Smith-Magenis Syndrome
Hyperactivity, Impaired pain sensation, Self hugging, Increased body weight, Head-banging, Onycho... OMIM:182290
Short Stature, Developmental Delay, And Congenital Heart Defects
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... OMIM:617044
Bilateral Generalized Polymicrogyria
Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Lateral ventricle dilatati... ORPHA:208447
Greig Cephalopolysyndactyly Syndrome
Hypospadias, Hydrocephalus, Abnormal heart morphology, Agenesis of corpus callosum, Ventriculomegaly OMIM:175700
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors, ... ORPHA:101039
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Micro... ORPHA:96170
Alexander Disease
Increased CSF protein concentration, Hydrocephalus, Ataxia, Dysmetria OMIM:203450
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Dysplastic corpus callosum, Obesity, Secondary microcephaly, Peri... OMIM:619737
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive psychomotor deterioration, Progressive gait ataxia, Dystonia, E... ORPHA:309263
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:615637
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Confusion, Jaundice, Schistocytosis, Elevated circulating creatinine concentrati... OMIM:274150
Obesity, Hyperphagia, And Developmental Delay
Abnormal repetitive mannerisms, Polyphagia, Obesity OMIM:613886
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Short attention span, Failure to thrive, Overweight, Hydrocephalus, Head-banging, Self-injurious ... OMIM:619575
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Short stature, Reduced cerebral white matter volume, Hydrocephalus, Secondary microcephaly, Hypop... OMIM:618174
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi... OMIM:620292
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Gait ataxia ORPHA:488635
Medulloblastoma
Ataxia, Hydrocephalus, Dysmetria, Irritability, Progressive cerebellar ataxia, Cognitive impairme... ORPHA:616
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Lacticaciduria, Increased CSF lactate... OMIM:604273
Autosomal Recessive Spastic Paraplegia Type 11
Short attention span, Ataxia, Overweight, Mental deterioration, Obesity, Memory impairment, Later... ORPHA:2822
Developmental And Epileptic Encephalopathy 6B
Ataxia, Chorea, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms OMIM:619317
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Failure to thrive in... ORPHA:488627
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Dystonia, Chorea, Self-injurious behavior, Bruxism, Abnormal repetitive mann... OMIM:618004
Oromandibular Dystonia
Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Weight loss, Blepharospasm, Li... ORPHA:93958
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Failure to thrive, Impulsivity, Aggressive behavior, Dilated third ventricle, Overweight, Hydroce... ORPHA:500055
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
1Q44 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Horseshoe kidney, Growth delay, Abnormal cardiac sept... ORPHA:238769
Autism, Susceptibility To, 3
Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships... OMIM:608049
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Motor deterioration, Dementia, Low frustration tolera... ORPHA:168491
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Abnormal repetitive mannerisms OMIM:619092
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Infantile Sialic Acid Storage Disease
Cardiomegaly, Hydrocephalus, Cerebral atrophy, Nephrotic syndrome, Failure to thrive OMIM:269920
Acquired Aneurysmal Subarachnoid Hemorrhage
Progressive neurologic deterioration, Hydrocephalus, Hyperglycorrhachia, Increased CSF lactate, A... ORPHA:90065
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Aggressive behavior, Dysmetria, Attention deficit hyperactivity disorder, Truncal ataxia, Abnorma... OMIM:619121
Leukodystrophy, Hypomyelinating, 13
Irritability, Exaggerated startle response, Failure to thrive, Ataxia OMIM:616881
Developmental And Epileptic Encephalopathy 31B
Opisthotonus, Irritability, Colpocephaly, Choking episodes, Failure to thrive, Agenesis of corpus... OMIM:620352
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Short attention span, Torticollis, Partial agenesis of the corpus callosum, Delay... ORPHA:300570
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... OMIM:608836
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus, Short stature OMIM:210350
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum ORPHA:250972
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618577
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Pettigrew Syndrome
Ventriculomegaly, Aggressive behavior, Aqueductal stenosis, Hydrocephalus, Stereotypical hand wri... OMIM:304340
Pallister-Hall-Like Syndrome
Occipital encephalocele, Short stature, Microcephaly, Hydrocephalus, Micropenis, Hypothalamic ham... OMIM:241800
Fanconi Renotubular Syndrome 3
Aminoaciduria, Elevated circulating creatinine concentration, Glycosuria OMIM:615605
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Bicuspid aortic valve, Microcephaly, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hyp... OMIM:615599
Craniopharyngioma
Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ... ORPHA:54595
Lissencephaly 5
Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen... OMIM:615191
47,Xyy Syndrome
Hyperactivity, Impulsivity, Hydrocephalus, Impaired social interactions, Attention deficit hypera... ORPHA:8
4Q21 Microdeletion Syndrome
Tremor, Abnormal repetitive mannerisms, Self-injurious behavior, Agenesis of corpus callosum, Ven... ORPHA:238750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Microcephaly, Hydrocephalus, Cardiomyopathy, Hypoplasia of the corpus callosum, Foc... OMIM:613155
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Attention deficit hypera... OMIM:300986
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308700
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly, Cognitive impairment ORPHA:588
2Q23.1 Microdeletion Syndrome
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... ORPHA:228402
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Tongue thrusting ORPHA:77299
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Hydrocephalus, Abnormal cardiac septum morphology, Pol... ORPHA:83473
Arachnoid Cyst
Encephalocele, Enlarged fossa interpeduncularis, Hydrocephalus, Depression, Social and occupation... ORPHA:2356
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Short stature, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Decreased body weight, Mi... OMIM:614833
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia OMIM:617744
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Irritability, Lateral ventricle dilatation, Agitation, Cognitive impairment, Dysphagia ORPHA:2148
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Unilateral renal... OMIM:620305
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Growth del... OMIM:620156
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Unilateral renal hypoplasia, Colpocephaly, Vesicoureter... OMIM:619955
Kleeblattschaedel
Hydrocephalus OMIM:148800
Amelocerebrohypohidrotic Syndrome
Mental deterioration, Hydrocephalus, Dementia ORPHA:1946
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Hydrocephalus, Tubulointerstitial nephritis, Enuresis, Attention deficit hyperacti... ORPHA:459061
X-Linked Intellectual Disability, Cantagrel Type
Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:85277
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Tay-Sachs Disease
Short attention span, Exaggerated startle response, Dystonia, Tremor, Dysmetria, Depression, Dysp... ORPHA:845
Hydrocephalus, Normal-Pressure, 1
Dementia, Normal pressure hydrocephalus OMIM:236690
Hogue-Janssen Syndrome 2
Unilateral renal agenesis, Microcephaly, Hydrocephalus, Hypoplasia of the corpus callosum, Agenes... OMIM:616362
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Overweight, Tremor, Depression, Abnormal repetitive mannerisms, Self-mutilation ORPHA:457240
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Thanatophoric Dysplasia Type 2
Encephalocele, Hydrocephalus, Holoprosencephaly, Cognitive impairment, Ventriculomegaly ORPHA:93274
Congenital Muscular Dystrophy, Fukuyama Type
Type II lissencephaly, Hydrocephalus, Dilated cardiomyopathy, Aplasia/Hypoplasia of the corpus ca... ORPHA:272
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Pain insensitivity, Ataxia, Repetitive compulsive behavior, Chorea, Bruxism, Depression, Hostilit... OMIM:300260
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Poor head control, Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus,... OMIM:615249
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Pain insensitivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-pi... OMIM:600430
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Houge-Janssens Syndrome 3
Self-injurious behavior, Ventriculomegaly, Abnormal repetitive mannerisms, Attention deficit hype... OMIM:618354
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Depression ORPHA:275543
Developmental And Speech Delay Due To Sox5 Deficiency
Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder... ORPHA:313892
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ritscher-Schinzel Syndrome 4
Ataxia, Impulsivity, Aggressive behavior, Abnormal repetitive mannerisms, Chorea, Mild fetal vent... OMIM:619435
Lamb-Shaffer Syndrome
Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma... ORPHA:530983
Rett Syndrome
Dystonia, Cachexia, Bruxism, Gait ataxia, Truncal ataxia, Motor deterioration, Stereotypical hand... OMIM:312750
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Dilated cardiomyopathy, ... OMIM:253800
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Den Hoed-De Boer-Voisin Syndrome
Short attention span, Ventriculomegaly, Ataxia, Overweight, Tremor, Obesity, Lateral ventricle di... OMIM:619229
Galloway-Mowat Syndrome 6
Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight OMIM:618347
Childhood Absence Epilepsy
Abnormal social behavior, Punding, Attention deficit hyperactivity disorder, Depression ORPHA:64280
Hydrocephalus, Congenital, X-Linked
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... OMIM:307000
Aicardi-Goutieres Syndrome 4
Ventriculomegaly, Cerebral calcification, Hydrocephalus, Cerebral atrophy, CSF lymphocytic pleioc... OMIM:610333
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Choreoacanthocytosis
Chorea, Oromandibular dystonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Impaired... ORPHA:2388
Chromosome 15Q11.2 Deletion Syndrome
Ataxia, Diminished ability to concentrate, Attention deficit hyperactivity disorder, Impaired soc... OMIM:615656
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Ventriculomegaly, Small for gestational age, Hypospadias, Short sta... OMIM:257300
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Hypoa... OMIM:608104
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Megalencephaly, Hydrocephalus, Cavum septum pellucidum, Polymicrogyria... OMIM:602501
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Microcephaly, Complet... OMIM:264480
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Polymicrogyria, Hydrocephalus, Red-brown urine, Stage 5 chronic kidney di... ORPHA:157
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Dysplastic corpus callosum, Cerebral atrophy, Extra-axial cerebrospinal fluid accumulation, Hypop... OMIM:616900
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter
Dystonia, Abnormal repetitive mannerisms, Ventriculomegaly, Gait ataxia OMIM:617807
3C Syndrome
Hypoplasia of penis, Ventriculomegaly, Ventricular septal defect, Abnormal mitral valve morpholog... ORPHA:7
Emanuel Syndrome
Ventriculomegaly, Ventricular septal defect, Truncus arteriosus, Unilateral renal agenesis, Micro... OMIM:609029
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... ORPHA:2182
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly OMIM:614120
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation, Dysphagia ORPHA:163961
Pontocerebellar Hypoplasia Type 2
Ventriculomegaly, Abnormal cortical gyration, Oral-pharyngeal dysphagia, Dysplastic corpus callos... ORPHA:2524
Cerebrofacioarticular Syndrome
Hypospadias, Short stature, Microcephaly, Dysplastic corpus callosum, Renal hypoplasia, Absence o... ORPHA:314679
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Hypospadias, Microcephaly, Focal polymicrogyria, Dysplastic corpus cal... OMIM:619103
Radio-Tartaglia Syndrome
Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Agenesis of corpus callosum, Attention... OMIM:619312
Cri-Du-Chat Syndrome
Short attention span, Hyperactivity, Small for gestational age, Aggressive behavior, Abnormal rep... OMIM:123450
1Q21.1 Microdeletion Syndrome
Short stature, Microcephaly, Hydrocephalus, Depression, Abnormal cardiac septum morphology, Atten... ORPHA:250989
Congenital Disorder Of Glycosylation, Type Iil
Ventricular septal defect, Abnormal cortical gyration, Unilateral renal agenesis, Microcephaly, H... OMIM:614576
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Hypospadias, Hydrocephalus, Obesity, Renal hypoplasia, Cerebral atrophy, Abnormal septum pellucid... ORPHA:171839
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Hydrocephalus OMIM:236660
Temple Syndrome
Small for gestational age, Short stature, Maturity-onset diabetes of the young, Precocious pubert... OMIM:616222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hydrocephalus, Ventriculomegaly OMIM:614830
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Short stat... ORPHA:2235
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis
Hydrocephalus, Short stature, Hypoplasia of the corpus callosum ORPHA:1516
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Small for gestational age, Partial agenesis of the corpus callosum, Increased CSF lactate... ORPHA:79243
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve, Hydrocephalus, Cerebral atrophy, Secondary microcephaly, Hypoplasia of the... ORPHA:397951
Alexander Disease
Diabetes mellitus, Cerebral calcification, Facial palsy, Megalencephaly, Precocious puberty, Hypo... ORPHA:58
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal insufficiency, Dicarboxylic aciduria, Cerebral calcification, Intracerebral periventricular... ORPHA:228308
Coffin-Siris Syndrome 6
Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder OMIM:617808
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker malformation OMIM:617967
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Impaired vibration sensation in the lower limbs ORPHA:401815
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Type... ORPHA:352682
5Q14.3 Microdeletion Syndrome
Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:228384
Chromosome 6Q24-Q25 Deletion Syndrome
Probst bundles, Hydrocephalus, Dysplastic tricuspid valve, Mitral valve prolapse, Right ventricul... OMIM:612863
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Micropenis, Hypoplasia of the ovary, Decr... OMIM:618841
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Hypoplasia of t... OMIM:613001
Rett Syndrome, Congenital Variant
Dystonia, Chorea, Tongue thrusting, Irritability, Athetosis, Impaired social interactions, Bruxis... OMIM:613454
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Restlessness, Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Ventriculomegaly, Exaggerated startle response, Dysplastic corpus callosum, Hydroc... OMIM:617281
Snijders Blok-Campeau Syndrome
Ventriculomegaly, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618205
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go... ORPHA:91348
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Self-mutilation, Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Ventricular septal defect, Hypospadias, Hydrocephalus, Growth delay, Holopro... ORPHA:77298
Intellectual Developmental Disorder, Autosomal Recessive 71
Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder OMIM:618504
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,... OMIM:615219
Osteopetrosis, Autosomal Recessive 9
Elevated circulating creatinine concentration, Hyperkalemia, Anemia OMIM:620366
Frontal Encephalocele
Encephalocele, Cerebral calcification, Spina bifida, Hydrocephalus, Aplasia/Hypoplasia of the cor... ORPHA:1931
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Hypoglycemia, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Hyperactivity, Gait ataxia, Low frustration tolerance, Abnormal repetitive mannerisms, Self-mutil... OMIM:300486
Walker-Warburg Syndrome
Hypoplasia of penis, Ventriculomegaly, Absent septum pellucidum, Abnormal cortical gyration, Micr... ORPHA:899
Cerebral Creatine Deficiency Syndrome 1
Dystonia, Aggressive behavior, Impaired social interactions, Attention deficit hyperactivity diso... OMIM:300352
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, ... OMIM:611134
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Ventriculomegaly ORPHA:324416
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Hyperactivity, Abnormal repetitive mannerisms, Lateral ventricle dilata... OMIM:617751
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Ventriculomegaly, Microcephaly, Hydrocephalus, Hydranencephaly, Intrauterine growth retardation, ... OMIM:225790
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Pain insensitivity, Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, D... OMIM:617061
Oculoskeletodental Syndrome
Short stature, Dysplastic corpus callosum, Nephrocalcinosis, Focal white matter lesions, Abnormal... ORPHA:557003
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Dysphagia, Failure to thrive OMIM:620001
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Microcephaly, Situs inversus totalis, Hy... ORPHA:1908
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hydrocephalus, Short stature, Agenesis of corpus callosum, Ventriculomegaly OMIM:109120
Glutaric Acidemia I
Hydrocephalus, Opisthotonus, Choreoathetosis, Lateral ventricle dilatation, Dystonia, Failure to ... OMIM:231670
Desmosterolosis
Failure to thrive, Severe short stature, Absent septum pellucidum, Abnormal cortical gyration, Mi... ORPHA:35107
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Ventricular septal defect, Short stature, Hydrocephalus, Chronic kidney disease, Obesity, Nephron... OMIM:615630
Smith-Magenis Syndrome
Failure to thrive in infancy, Impaired pain sensation, Obesity, Self-injurious behavior, Attentio... ORPHA:819
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation, Bruxism OMIM:615716
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... OMIM:613095
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Potocki-Lupski Syndrome
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ... OMIM:610883
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Ectopic kidney, Hydrocephalus, Horseshoe kidney, Lateral ventricle dilatati... OMIM:602200
Intellectual Developmental Disorder, X-Linked 98
Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica... OMIM:300912
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Fg Syndrome Type 1
Hypospadias, Short stature, Hydrocephalus, Mitral valve prolapse, Aplasia/Hypoplasia of the corpu... ORPHA:93932
Martsolf Syndrome 2
Lateral ventricle dilatation, Decreased body weight OMIM:619420
Optic Pathway Glioma
Precocious puberty, Hydrocephalus, Ophthalmoplegia, Growth delay, Fatigable weakness ORPHA:2086
Renal Tubular Acidosis, Distal, 1
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia OMIM:179800
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Confusion, Hyperbilirubinemia ORPHA:542323
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Renal cyst, Growth delay, I... OMIM:614424
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Cognitive impairment, Dysphagia, Failure to thrive, Ventriculomegaly OMIM:617527
Nmda Receptor Encephalitis
Short attention span, Confusion, Oculogyric crisis, Hypersexuality, Chorea, CSF pleocytosis, Depr... ORPHA:217253
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus OMIM:258320
Intellectual Developmental Disorder, Autosomal Dominant 52
Hyperactivity, Small for gestational age, Overweight, Pica, Irritability, Obsessive-compulsive tr... OMIM:617796
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Hydranencephaly, Intr... ORPHA:2570
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Impulsivity, Aggressive behavior, Self-injurious behavior, Lateral ventricle dilatation, Abnormal... OMIM:618914
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... OMIM:618430
Dandy-Walker Malformation With Postaxial Polydactyly
Dilated fourth ventricle, Hydrocephalus, Dandy-Walker malformation, Truncal ataxia OMIM:220220
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Aggressive behavior, Tremor, Gait ataxia, Attention deficit hyperactivity disorder, Compulsive be... ORPHA:476126
Blepharophimosis-Impaired Intellectual Development Syndrome
Abnormal repetitive mannerisms, Low frustration tolerance, Attention deficit hyperactivity disord... OMIM:619293
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Anterior Cutaneous Nerve Entrapment Syndrome
Somatic sensory dysfunction, Anorexia, Impaired tactile sensation, Hyperesthesia, Decreased body ... ORPHA:51890
Adams-Oliver Syndrome 2
Microcephaly, Hydrocephalus, Cerebral atrophy, Lateral ventricle dilatation, Polymicrogyria OMIM:614219
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Irritability, Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior ORPHA:391307
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Emotional lability, Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia ... ORPHA:1926
Stiff Person Spectrum Disorder
Emotional lability, Exaggerated startle response ORPHA:3198
Trisomy 1Q
Multicystic kidney dysplasia, Ventricular septal defect, Hydrocephalus, Congenital megaureter, Ag... ORPHA:261344
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation OMIM:618056
Cerebral Visual Impairment
Short attention span, Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:447788
Autosomal Recessive Cutis Laxa Type 2A
Dilated fourth ventricle, Thick cerebral cortex, Postnatal growth retardation, Dysplastic corpus ... ORPHA:357058
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Dementia, Chorea, Dystonia OMIM:272750
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Ataxia, Hydrocephalus, Cognitive impairment, Mental deterioration, Failure to thrive, Ventriculom... ORPHA:395
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Unilateral renal agenesis, Dysplastic corpus callosum, Muscular ventricular septal d... ORPHA:363444
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Hydroureter, Ventricular septal defect, ... ORPHA:2461
Chromosome 5P13 Duplication Syndrome
Small for gestational age, Abnormal repetitive mannerisms, Self-injurious behavior, Compulsive be... OMIM:613174
Methylcobalamin Deficiency Type Cble
Microcephaly, Hemolytic-uremic syndrome, Postnatal growth retardation, Hydrocephalus, Abnormal ce... ORPHA:2169
Kapur-Toriello Syndrome
Hypoplasia of penis, Ventricular septal defect, Pachygyria, Dysplastic corpus callosum, Tetralogy... ORPHA:2328
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem... OMIM:619475
48,Xxxy Syndrome
Tremor, Obesity, Irritability, Attention deficit hyperactivity disorder, Abnormal social behavior... ORPHA:96263
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... ORPHA:79126
Peroxisome Biogenesis Disorder 12A (Zellweger)
Short stature, Microcephaly, Hydrocephalus, Cerebral atrophy, Renal tubular dysfunction, Growth d... OMIM:614886
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Megalencephaly, Hydrocephalus, Thick corpus callosum, Hypoplasia of th... OMIM:603387
Bacterial Toxic-Shock Syndrome
Confusion, Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating ... ORPHA:36234
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp... ORPHA:478
Metachromatic Leukodystrophy, Late Infantile Form
Gait ataxia, Progressive gait ataxia, Dystonia, Emotional lability, Abnormal social behavior, Inc... ORPHA:309256
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Hydrocephalus, Cardiomegaly OMIM:300886
Multiple Sulfatase Deficiency
Ataxia, Hydrocephalus, Rapid neurologic deterioration, Increased CSF protein concentration, Ventr... OMIM:272200
Joubert Syndrome With Renal Defect
Encephalocele, Renal insufficiency, Hydrocephalus, Nephropathy, Abnormality of the hypothalamus-p... ORPHA:220497
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Enlarged sylvian cistern, Abnormal repetitive mannerisms, Inappropriate laughter, Failure to thri... OMIM:615802
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Microcephaly, Hydrocephalus, Urethral stenosi... ORPHA:261290
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Whipple Disease
Ataxia, Anorexia, Cachexia, Hydrocephalus, Depression, Polydipsia ORPHA:3452
Tenorio Syndrome
Hypoinsulinemia, Hydrocephalus, Emotional lability, Enuresis, Cavum septum pellucidum, Cerebral c... OMIM:616260
Joubert Syndrome With Ocular Defect
Encephalocele, Dextrocardia, Hydrocephalus, Abnormality of the hypothalamus-pituitary axis, Polym... ORPHA:220493
Acrodysostosis 1 With Or Without Hormone Resistance
Small for gestational age, Mild postnatal growth retardation, Unilateral renal agenesis, Short st... OMIM:101800
Senior-Loken Syndrome 1
Polydipsia, Elevated circulating creatinine concentration, Anemia OMIM:266900
Cutis Laxa, Autosomal Recessive, Type Iib
Microcephaly, Hydrocephalus, Intrauterine growth retardation, Failure to thrive, Agenesis of corp... OMIM:612940
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Patent foramen ovale, Hydrocephalus, Atrial septal defect, Tetralogy o... OMIM:612582
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Elevated circulating creatinine concentration OMIM:614376
Bresek Syndrome
Microcephaly, Hydrocephalus, Renal hypoplasia, Growth delay, Vesicoureteral reflux, Intrauterine ... ORPHA:85284
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Short stature, Hydrocephalus, Pulmonic stenosis ORPHA:2701
Triploidy
Hypoplasia of penis, Hypospadias, Hydrocephalus, Meningocele, Aplasia/Hypoplasia of the corpus ca... ORPHA:3376
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Limb dystonia, Ataxia, Aggressive behavior, Tremor, Dysmetria, Athetosi... ORPHA:572798
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Decreased response to growth hormone stimulation test, Pineal cyst, Vesico... ORPHA:363958
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation, Dystonia OMIM:617668
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Exaggerated startle response, Depression OMIM:620114
Niemann-Pick Disease Type C
Limb dystonia, Axial dystonia, Dystonia, Ataxia, Progressive neurologic deterioration, Aggressive... ORPHA:646
Rett Syndrome
Increased CSF lactate, Agitation, Dystonia, Failure to thrive, Abnormal repetitive mannerisms, St... ORPHA:778
Asparagine Synthetase Deficiency
Dilated fourth ventricle, Exaggerated startle response, Failure to thrive, Tremor, Irritability, ... OMIM:615574
Fanconi Anemia, Complementation Group D2
Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Ectopic kidney, Microce... OMIM:227646
Monosomy 18Q
Absence of the pulmonary valve, Slender build, Short stature, Microcephaly, Secundum atrial septa... ORPHA:1600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ataxia, Aggressive behavior, Lateral ventricle dilatation, Low frustration tolerance, Abnormal te... ORPHA:457279
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Dural Sinus Malformation
Somatic sensory dysfunction, Ataxia, Myelopathy, Hydrocephalus, Dementia, Mental deterioration ORPHA:97339
Thanatophoric Dysplasia
Hydrocephalus, Disproportionate short-limb short stature, Atrial septal defect, Intrauterine grow... ORPHA:2655
6Q25 Microdeletion Syndrome
Short stature, Microcephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculomegaly ORPHA:251056
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Agenesis of corpus callosum, Abnormal repetitive mannerisms, Attention deficit hyperactivity diso... OMIM:620073
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Hydrocephalus, Secondary microcephaly, Lissencephaly, Intrauterine gro... OMIM:612938
6P22 Microdeletion Syndrome
Hydrocephalus, Hydronephrosis ORPHA:251046
Adenine Phosphoribosyltransferase Deficiency
Elevated circulating creatinine concentration OMIM:614723
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration OMIM:620138
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Aminoacidu... ORPHA:411634
Niemann-Pick Disease, Type C2
Ataxia, Dysphagia, Dementia, Dystonia, Abnormal repetitive mannerisms OMIM:607625
Joubert Syndrome 6
Dilated fourth ventricle, Enlarged fossa interpeduncularis, Abnormal repetitive mannerisms, Ataxia OMIM:610688
22Q11.2 Duplication Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors ORPHA:1727
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Aggressive behavior, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, ... ORPHA:314647
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Abnormal repetitive mannerisms, Ataxia, Head tremor OMIM:619428
Inverted Duplicated Chromosome 15 Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior, Self-biting ORPHA:3306
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Aggressive behavior, Large for gestational age, Dysplastic corpus callosum, Self-injurious behavi... ORPHA:544488
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Stiff-Person Syndrome
Exaggerated startle response, Opisthotonus, Depression OMIM:184850
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Small for gestational age, Dysphagia, Opisthotonus, Lateral ventricle dilatation, Limb dystonia OMIM:619847
Vacterl Association With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology OMIM:276950
Holoprosencephaly 14
Ventriculomegaly, Ventricular septal defect, Absent septum pellucidum, Microcephaly, Alobar holop... OMIM:619895
Desmosterolosis
Rhizomelia, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Aplasia/Hypopla... OMIM:602398
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Short attention span, Exaggerated startle response, Ataxia, Dystonia ORPHA:438216
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Disproportionate short-trunk short stature, Hydrocephalus, Small for gestational age, Microcephaly OMIM:613330
Fanconi Anemia, Complementation Group B
Hypergonadotropic hypogonadism, Ventricular septal defect, Hydrocephalus, Growth delay, Hypogonad... OMIM:300514
Edinburgh Malformation Syndrome
Hydrocephalus, Failure to thrive ORPHA:1895
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Self-injurious behavior, Hyperactivity, Lateral ventricle dilatation, Aggressive behavior OMIM:620075
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Dysplastic corpus callosum, Ophthalmoplegia, Leukoencephalopathy, Hypoplasia o... OMIM:614924
Prader-Willi Syndrome Due To Translocation
Obesity, Head-banging, Lateral ventricle dilatation, Abnormal temper tantrums, Skin-picking, Comp... ORPHA:177907
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Gait ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Overfriendliness OMIM:616579
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Hypospadias, Absent septum pellucidum, Microcephaly,... OMIM:309801
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Hydrocephalus, Ataxia, Confusion, Cachexia ORPHA:220295
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:411986
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diabetes of the young, Biliary trac... OMIM:137920
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Failure to thrive, Dandy-Walker malformation, Gait ataxia OMIM:618606
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:500159
Alazami Syndrome
Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh... ORPHA:319671
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Hyperactivity, Microcephaly, Aqueductal stenosis, Abnormal repetitive mannerisms, Partial agenesi... OMIM:619512
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Failure to thrive, Secondary microcephaly, Short stature OMIM:619423
Tetrasomy 15Q26
Hydrocephalus, Horseshoe kidney, Atrial septal defect, Intrauterine growth retardation, Hydroneph... OMIM:614846
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, ... ORPHA:96121
Hemangioblastoma
Upper limb muscle weakness, Neurogenic bladder, Lower limb muscle weakness, Hydrocephalus ORPHA:252054
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Confusion, Tremor, Hydrocephalus, Dementia, Failure to thrive, Delirium OMIM:277400
Myopathy, Centronuclear, X-Linked
Facial palsy, External ophthalmoplegia, Hydrocephalus, Generalized muscle weakness, Neck muscle w... OMIM:310400
Sandhoff Disease
Exaggerated startle response, Progressive psychomotor deterioration, Ataxia, Impaired temperature... OMIM:268800
Crouzon Syndrome With Acanthosis Nigricans
Hydrocephalus OMIM:612247
Houge-Janssens Syndrome 1
Hydrocephalus, Ventriculomegaly, Gait ataxia OMIM:616355
Hypouricemia, Renal, 1
Elevated circulating creatinine concentration, Hypouricemia OMIM:220150
Hydrolethalus
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum ORPHA:2189
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Hypothyroidism, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly ORPHA:1812
Aapoaiv Amyloidosis
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration ORPHA:439232
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Impaired pain sensation, Extra-axial cerebrospinal fluid accumulation, Attention deficit hyperact... OMIM:619005
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Iron deficiency anemia, Hypo... OMIM:618885
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism... ORPHA:79239
Phelan-Mcdermid Syndrome
Aggressive behavior, Impaired pain sensation, Tongue thrusting, Impaired social interactions, Bru... OMIM:606232
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Irritability, Tics, Failure... OMIM:616364
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
B4Galt1-Cdg
Hydrocephalus, Small for gestational age, Dandy-Walker malformation ORPHA:79332
Lowry-Maclean Syndrome
Hypospadias, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Growth delay... ORPHA:2409
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Ventriculomegaly, Dysphagia OMIM:617301
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Cortical dysplasia, Renal cyst, Pheochromocytoma, Subependymal nodule... ORPHA:805
Distal Triplication 15Q
Large for gestational age, Hydrocephalus, Horseshoe kidney, Abnormal heart morphology, Polycystic... ORPHA:314588
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Transposition of the great arteries, Intr... ORPHA:1780
Endocrine-Cerebroosteodysplasia
Ventriculomegaly, Hypospadias, Absent septum pellucidum, Adrenal hypoplasia, Focal polymicrogyria... OMIM:612651
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Developmental And Epileptic Encephalopathy 66
Abnormal repetitive mannerisms OMIM:618067
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
3P25.3 Microdeletion Syndrome
Ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder ORPHA:435638
Coffin-Siris Syndrome 7
Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors OMIM:618027
Intellectual Developmental Disorder, Autosomal Dominant 70
Hydrocephalus, Failure to thrive, Hypoplasia of the corpus callosum, Microcephaly OMIM:620157
Dentici-Novelli Neurodevelopmental Syndrome
Abnormal repetitive mannerisms OMIM:619877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Hydrocephalus, Polymicrogyria, Type II lissencephaly, Leukoencephalopathy OMIM:615181
Hijazi-Reis Syndrome
Abnormal repetitive mannerisms OMIM:301094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Partial agenesis of the corpu... OMIM:614643
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype... ORPHA:29073
Mucopolysaccharidosis Type 3
Hyperactivity, Ataxia, Progressive neurologic deterioration, Aggressive behavior, Hypersexuality,... ORPHA:581
Transketolase Deficiency
Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms... ORPHA:488618
Halperin-Birk Syndrome
Pseudobulbar paralysis, Colpocephaly, Failure to thrive, Agenesis of corpus callosum, Ventriculom... OMIM:618651
Smith-Lemli-Opitz Syndrome
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Renal cyst, Holoprosencephaly,... OMIM:270400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hydrocephalus, Obesity OMIM:601794
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Exaggerated startle response, Lateral ventricle dilatation, Dysphagia OMIM:618367
Wiedemann-Steiner Syndrome
Psychomotor deterioration, Short attention span, Hyperactivity, Aggressive behavior, Low frustrat... ORPHA:319182
Distal Deletion 10Q
Ataxia, Aggressive behavior, Spina bifida occulta, Lateral ventricle dilatation, Attention defici... ORPHA:96148
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be... OMIM:619244
2Q37 Microdeletion Syndrome
Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh... ORPHA:1001
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Dystonia, Impaired oropharyngeal swallow response, Failure to thriv... ORPHA:521426
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Cerebral atrophy, Progressive microcephaly, Muscle weakness, Hypoplasia of the cor... OMIM:614969
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Hydrocephalus, Urethral atresia, Transposition of the great arteries, Atrioventricu... OMIM:314390
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Hypertrophic cardiomyopathy, Micropenis OMIM:618810
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Anorexia, Elevated circulating C-reactive protein concentration, Elevated circ... ORPHA:49041
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Failure to thrive, Poor head control, Ventricular septal defect, Anterior pituitary hypoplasia, S... ORPHA:466791
Metatropic Dysplasia
Hydrocephalus ORPHA:2635
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Partial agenesis of the corpus callosum, Renal cyst, Microlissencephaly, Atrial septal defect, Mi... OMIM:210710
Aicardi-Goutieres Syndrome 9
Weight loss, Irritability, Lateral ventricle dilatation, Dystonia, Failure to thrive, Self-mutila... OMIM:619487
Alkuraya-Kucinskas Syndrome
Ventriculomegaly, Pericardial effusion, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum,... OMIM:617822
Genitopalatocardiac Syndrome
Multicystic kidney dysplasia, Hypospadias, Microcephaly, Hydrocephalus, Abnormal cardiac septum m... ORPHA:2075
Vitamin K Antagonist Embryofetopathy
Hydrocephalus, Myelomeningocele ORPHA:1914
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Ataxia OMIM:608629
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Orofaciodigital Syndrome I
Proteinuria, Abnormal cortical gyration, Short stature, Microcephaly, Myelomeningocele, Porenceph... OMIM:311200
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Ectopic kidney, Atrial septal defect, Pachygyria, Hypothyroidism, Agenesis... OMIM:607872
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Hydrocephalus, Obesity ORPHA:2180
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Microcephaly, Dysplastic corpus callosum, Muscular ventricular septal defect, Head-banging, Hypop... OMIM:618569
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Abnormal pulmon... ORPHA:2162
Sturge-Weber Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder, Dysphagia ORPHA:3205
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Failure to thrive OMIM:618201
Joubert Syndrome
Encephalocele, Situs inversus totalis, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:475
Osteopetrosis, Autosomal Recessive 5
Poor head control, Short stature, Facial palsy, Microcephaly, Diffuse white matter abnormalities,... OMIM:259720
Hemorrhagic Fever-Renal Syndrome
Confusion, Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentr... ORPHA:340
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Tetraamelia-Multiple Malformations Syndrome
Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydrocephalus, Septo-optic dysplasia ORPHA:3301
Mend Syndrome
Failure to thrive, Hyperactivity, Short stature, Aggressive behavior, Hydrocephalus, Abnormal hea... ORPHA:401973
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Czeizel-Losonci Syndrome
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Ureteral agenesis, Congenital megaur... ORPHA:2437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Ventriculomeg... OMIM:615287
Cardiofaciocutaneous Syndrome 1
Short stature, Hydrocephalus, Tongue thrusting, Aplasia/Hypoplasia of the corpus callosum, Cerebr... OMIM:115150
Helsmoortel-Van Der Aa Syndrome
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Irritability, Lateral ventricle ... OMIM:615873
Neonatal Lupus Erythematosus
Basal ganglia calcification, Hydrocephalus, Dilated cardiomyopathy, Abnormal heart morphology, Ab... ORPHA:398124
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... OMIM:300967
Adams-Oliver Syndrome
Encephalocele, Abnormal pulmonary valve morphology, Hydrocephalus, Porencephalic cyst, Tetralogy ... ORPHA:974
Multiple Sulfatase Deficiency
Rapid neurologic deterioration, Hydrocephalus ORPHA:585
Intellectual Developmental Disorder, Autosomal Dominant 34
Abnormal repetitive mannerisms, Bruxism OMIM:616351
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hydrocephalus ORPHA:2181
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:154230
Foxg1 Syndrome Due To 14Q12 Microdeletion
Agenesis of corpus callosum, Abnormal repetitive mannerisms ORPHA:261144
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hydrocephalus ORPHA:93262
Full Nf2-Related Schwannomatosis
Somatic sensory dysfunction, Myelopathy, Hydrocephalus, Hyperesthesia, Dysphagia, Memory impairment ORPHA:637
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Small for gestational age, Dandy-Walker m... ORPHA:3078
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Failure to thrive, Ventriculomegaly ORPHA:60040
Macrocephaly-Developmental Delay Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms ORPHA:397612
Nephronophthisis 18
Tubulointerstitial nephritis, Hydrocephalus, Stage 5 chronic kidney disease, Nephronophthisis OMIM:615862
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... ORPHA:91350
Primary Ciliary Dyskinesia
Abnormal atrial arrangement, Atrial situs ambiguous, Situs inversus totalis, Hydrocephalus, Anoma... ORPHA:244
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Kleefstra Syndrome
Aggressive behavior, Abnormal repetitive mannerisms, Obesity, Self-injurious behavior, Agenesis o... ORPHA:261494
Cardiogenic Shock
Elevated circulating creatinine concentration, Confusion ORPHA:97292
Holoprosencephaly 9
Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... OMIM:610829
Joubert Syndrome With Oculorenal Defect
Encephalocele, Renal insufficiency, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Nep... ORPHA:2318
Lenz-Majewski Hyperostotic Dwarfism
Hypospadias, Anterior pituitary hypoplasia, Short stature, Microcephaly, Dysplastic corpus callos... OMIM:151050
Oligomeganephronia
Polydipsia, Elevated circulating creatinine concentration ORPHA:2260
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation, Distal sensory impairment OMIM:256850
Mirage Syndrome
Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplasia, Short stature, Hydrocephalus, Ad... OMIM:617053
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Axial Mesodermal Dysplasia Spectrum
Short stature, Hydrocephalus, Abnormality of the ureter, Renal cyst, Hydronephrosis, Cerebral cor... ORPHA:1834
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Facial palsy, Partial age... OMIM:300373
Coffin-Siris Syndrome
Hyperactivity, Ventricular septal defect, Hypospadias, Microcephaly, Aggressive behavior, Postnat... ORPHA:1465
Cystinosis
Polydipsia, Failure to thrive, Abnormal repetitive mannerisms ORPHA:213
Congenital Myopathy 22A, Classic
External ophthalmoplegia, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Axial muscle... OMIM:620351
Arachnoiditis
Hydrocephalus, Urinary bladder sphincter dysfunction, Muscle weakness ORPHA:137817
Gorlin Syndrome
Hydrocephalus, Cerebral calcification, Hypogonadotropic hypogonadism ORPHA:377
Gabriele-De Vries Syndrome
Tremor, Lateral ventricle dilatation, Attention deficit hyperactivity disorder, Dystonia OMIM:617557
Opitz-Kaveggia Syndrome
Hypospadias, Short stature, Partial agenesis of the corpus callosum, Hydrocephalus, Abnormal hear... OMIM:305450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Poor head control, Cerebral calcification, Hydrocephalus, Hypoplasia of the corpus callosum, Poly... OMIM:616538
15Q Overgrowth Syndrome
Ureterovesical stenosis, Hydrocephalus, Horseshoe kidney, Intrauterine growth retardation, Agenes... ORPHA:314585
Albers-Schönberg Osteopetrosis
Hydrocephalus, Short stature, Facial palsy ORPHA:53
Malan Overgrowth Syndrome
Episodic ataxia, Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Griscelli Syndrome
Encephalocele, Hydrocephalus, Ataxia ORPHA:381
Glutamine Deficiency, Congenital
Subependymal cysts, Decreased CSF glutamine concentration, Lateral ventricle dilatation OMIM:610015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Ventriculomegaly, Type II lissencephaly, Hydrocephalus, Lateral ventricle dilatation, Dilated thi... OMIM:613154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Ventriculomegaly, Microcephaly, Hydrocephalus, Pachygyria, Agenesis of corpus call... OMIM:613150
Crouzon Syndrome
Hydrocephalus ORPHA:207
Apert Syndrome
Overriding aorta, Ventricular septal defect, Absent septum pellucidum, Megalencephaly, Hydrocepha... OMIM:101200
Bainbridge-Ropers Syndrome
Failure to thrive, Self-injurious behavior, Lateral ventricle dilatation, Recurrent hand flapping... OMIM:615485
Stromme Syndrome
Microcephaly, Hydrocephalus, Bilateral renal hypoplasia, Agenesis of corpus callosum, Hydronephrosis OMIM:243605
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Wolf-Hirschhorn Syndrome
Ventricular septal defect, Small for gestational age, Hypospadias, Microcephaly, Precocious puber... OMIM:194190
Tetrasomy 5P
Postnatal growth retardation, Pericallosal lipoma, Hydrocephalus, Failure to thrive ORPHA:3309
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Hydrocephalus, Dementia, Mental deterioration, Memory impairment, Failure to thrive, Deli... ORPHA:79282
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, Hypoparath... ORPHA:567
Histiocytoid Cardiomyopathy
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renal cyst, Failure to thrive, Agenesis o... ORPHA:137675
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Exaggerated startle response, Impaired vibration sensation in the lower limbs ORPHA:320406
Hurler Syndrome
Abnormal heart valve morphology, Short stature, Hydrocephalus, Depression, Growth delay, Cardiomy... ORPHA:93473
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Occipital encephalocele, Dandy-Walker malformation, Agyria, Ventriculomegaly, Microcephaly, Menin... OMIM:236670
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Abnormal repetitive mannerisms, Dysphagia OMIM:617802
Marshall-Smith Syndrome
Ventricular septal defect, Absent septum pellucidum, Short stature, Pachygyria, Hydrocephalus, Ce... OMIM:602535
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ... ORPHA:353277
Spondylocostal Dysostosis 4, Autosomal Recessive
Neurogenic bladder, Short stature, Dextrocardia, Situs inversus totalis, Myelomeningocele, Hydroc... OMIM:613686
Mucopolysaccharidosis, Type Ii
Severe short stature, Abnormal heart valve morphology, Short stature, Heparan sulfate excretion i... OMIM:309900
Rauch-Steindl Syndrome
Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior OMIM:619695
Mucopolysaccharidosis, Type Vii
Severe short stature, Abnormal heart valve morphology, Short stature, Heparan sulfate excretion i... OMIM:253220
Joubert Syndrome 2
Encephalocele, Enlarged fossa interpeduncularis, Renal insufficiency, Hydrocephalus, Renal cyst, ... OMIM:608091
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Microcephaly, Postnatal growth retardation, Abnormal cardiac ventricle mor... ORPHA:2306
Capillary Malformation-Arteriovenous Malformation
Hydrocephalus, Cerebral arteriovenous malformation ORPHA:137667
Focal Facial Dermal Dysplasia Type Iv
Hydrocephalus ORPHA:398189
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Kabuki Syndrome
Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Short stature, Microcephaly, Preco... ORPHA:2322
Mycophenolate Mofetil Embryopathy
Agenesis of corpus callosum, Hydrocephalus, Ventricular septal defect, Ectopic kidney ORPHA:268249
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Polycystic liver disease, Elevated circulating creatinine concentration, Hepati... ORPHA:730
Holoprosencephaly 7
Microcephaly, Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Hydrocephalus, P... OMIM:610828
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Short attention span, Hyperactivity, Impulsivity, Aggressive behavio... ORPHA:580
Cardiofaciocutaneous Syndrome
Abnormal heart valve morphology, Failure to thrive in infancy, Short stature, Hydrocephalus, Cere... ORPHA:1340
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Extra-axial cerebrospinal fluid accumulation,... OMIM:618291
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Microcephaly, Hydrocephalus,... ORPHA:2166
Trisomy 8P
Abnormal atrioventricular connection, Microcephaly, Hydrocephalus, Abnormal left ventricle morpho... ORPHA:264450
Holoprosencephaly-Caudal Dysgenesis Syndrome
Renal insufficiency, Abnormality of the diencephalon, Holoprosencephaly, Microcephaly ORPHA:2165
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation OMIM:300863
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome
Abnormal repetitive mannerisms, Dysphagia ORPHA:572013
Thanatophoric Dysplasia Type 1
Atrial septal defect, Hydrocephalus, Lethal short-limbed short stature, Ventriculomegaly ORPHA:1860
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Severe short stature, Rhizomelia, Urinary incontinence, Megalencephaly, Hydrocephalus, Disproport... OMIM:616482
Kleefstra Syndrome 1
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior OMIM:610253
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum, Decreased body weight OMIM:609053
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response, Ataxia OMIM:618598
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hyperactivity, Unilateral renal agenesis, Hydrocephalus, Hypoplasia of the corpus callosum, Agene... ORPHA:457284
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Dystonia, Abnormal ... ORPHA:522077
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyr... ORPHA:1647
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome
Abnormal repetitive mannerisms ORPHA:529965
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Unilateral renal agenesis, Secundum atrial septal defect, Hydrocephalus, Vesicoureteral reflux, M... OMIM:619951
Meckel Syndrome, Type 1
Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Adrenal hypoplasia, Microcep... OMIM:249000
Congenital Disorder Of Glycosylation, Type Iia
Aggressive behavior, Failure to thrive, Abnormal repetitive mannerisms, Self-mutilation, Stereoty... OMIM:212066
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma... ORPHA:353281
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Small for gestational age OMIM:619278
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Dyssegmental Dysplasia, Silverman-Handmaker Type
Encephalocele, Severe short stature, Microcephaly, Hydrocephalus, Abnormal heart morphology ORPHA:1865
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Severe short stature, Hypospadias, Absent septum pellucidum, Microceph... ORPHA:2556
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Zttk Syndrome
Ventriculomegaly, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Short stature, ... OMIM:617140
Intellectual Developmental Disorder, Autosomal Dominant 38
Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Bruxism, Abnormal repetitive ... OMIM:616393
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Thanatophoric Dysplasia, Type I
Hydrocephalus, Lethal short-limbed short stature, Disproportionate short-limb short stature, Temp... OMIM:187600
Van Esch-O'Driscoll Syndrome
Impulsivity, Shyness, Attention deficit hyperactivity disorder, Spina bifida occulta, Abnormal re... OMIM:301030
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Hyperactivity, Urinary incontinence, Hair-pulling, Dysphagia, Irritability, Secondary microcephal... ORPHA:447997
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly, Dysphagia ORPHA:261250
Pitt-Hopkins Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Ventriculomegaly, Gait ataxia OMIM:610954
Pentalogy Of Cantrell
Encephalocele, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Hydroceph... ORPHA:1335
Apert Syndrome
Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum, Ventriculomegaly ORPHA:87
Fanconi Anemia, Complementation Group R
Growth delay, Hydrocephalus, Pelvic kidney, Microcephaly OMIM:617244
Rhombencephalosynapsis
Hydrocephalus, Ataxia, Ventriculomegaly ORPHA:59315
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Small for gestational age, Attention deficit hyperactivity disorder, Failure to thrive, Abnormal ... ORPHA:464311
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Short stature, Microcephaly, Postnatal growth retardation, Hydro... ORPHA:235
Beare-Stevenson Cutis Gyrata Syndrome
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Hypospadias OMIM:123790
Osteopetrosis, Autosomal Recessive 1
Hydrocephalus, Failure to thrive, Facial palsy, Ophthalmoparesis OMIM:259700
Pilarowski-Bjornsson Syndrome
Abnormal repetitive mannerisms OMIM:617682
Parkes Weber Syndrome
Myelopathy, Somatic sensory dysfunction, Cerebral arteriovenous malformation, Distal sensory impa... ORPHA:90307
Gracile Bone Dysplasia
Micropenis, Failure to thrive, Short stature, Hydrocephalus OMIM:602361
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Rhizomelia, Hydrocephalus, Short stature, Intrauterine growth retardation ORPHA:163966
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Hydrocephalus OMIM:260500
Rabin-Pappas Syndrome
Failure to thrive in infancy, Microcephaly, Hydrocephalus, Obesity, Hypoplasia of the corpus call... OMIM:620155
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Short stature, Cardiomegaly, Pachygyria, Postnatal growth... ORPHA:3472
Cole-Carpenter Syndrome 2
Postnatal growth retardation, Hydrocephalus, Short stature OMIM:616294
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect, Dandy-Walker malformation OMIM:147800
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Multicystic kidney dysplasia, Renal insufficiency, Hydrocephalus, Aplasi... ORPHA:1454
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Ch... OMIM:618820
Hb Bart'S Hydrops Fetalis
Pericarditis, Hydrocephalus ORPHA:163596
Congenital Sialidosis Type 2
Hydrocephalus, Ataxia, Dysmetria ORPHA:93400
Otopalatodigital Syndrome Type 2
Encephalocele, Abnormal heart valve morphology, Hypospadias, Myelomeningocele, Hydrocephalus, Hyd... ORPHA:90652
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Hydrocephalus, Anencephaly, Renal hypoplasia, Holoprosencephaly, Intra... OMIM:269860
Papillorenal Syndrome
Elevated circulating creatinine concentration OMIM:120330
Hereditary Cryohydrocytosis With Reduced Stomatin
Communicating hydrocephalus, Intracerebral periventricular calcifications, Short stature, Microce... ORPHA:168577
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Short stature, Rhizomelia, Cardiomegaly, Hydrocephalus, Mitral valve prola... OMIM:245600
Hydrocephalus, Congenital, 5, Susceptibility To
Aqueductal stenosis, Noncommunicating hydrocephalus OMIM:620241
Radial Aplasia, X-Linked
Hydrocephalus OMIM:312190
Axenfeld-Rieger Syndrome, Type 2
Hydrocephalus, Hypospadias, Abnormal heart morphology OMIM:601499
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Hydrocephalus, Renal corticomedullary cysts, Vent... OMIM:219730
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Cerebral calcification, Proteinuria, Heparan sulfate excretion in urine, Hydrocephalus, Abnormal ... ORPHA:505248
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Severe short stature, Hypospadias, Absent septum pellucidum, Facial pa... ORPHA:2658
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Ataxia ORPHA:1861
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Renal insufficiency, Hydroureter, Hypospadias, Sh... ORPHA:84
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Developmental And Epileptic Encephalopathy 100
Chorea, Gait ataxia, Choreoathetosis, Dysphagia, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:619777
Lateral Meningocele Syndrome
Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Short stature, Hydrocephalu... OMIM:130720
Monosomy 22Q13.3
Hyperactivity, Hair-pulling, Obesity, Bruxism, Vesicoureteral reflux, Recurrent pyelonephritis, A... ORPHA:48652
Oxoglutaric Aciduria
Hydrocephalus, Ataxia ORPHA:31
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia ORPHA:496641
Achondroplasia
Hydrocephalus, Disproportionate short stature, Rhizomelia, Obesity ORPHA:15
Monosomy 9Q22.3
Hyperactivity, Hydrocephalus, Ventriculomegaly, Large for gestational age ORPHA:77301
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Anencephaly, Hypoplasia of the corpus callosum, Polycystic kidney dysplasia, Atria... OMIM:616546
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Meckel Syndrome, Type 3
Occipital encephalocele, Hydrocephalus, Dandy-Walker malformation OMIM:607361
Hurler Syndrome
Short stature, Heparan sulfate excretion in urine, Hydrocephalus, Dermatan sulfate excretion in u... OMIM:607014
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Failure to thrive, Meningocele, Lateral ventricle dila... ORPHA:397715
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Athetosis, Hydrocephalus OMIM:239300
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Decreased response to growth hormone stimulation test, Hydrocephalus, Central adre... OMIM:616007
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Obesity, Lateral ventricle dila... OMIM:617296
Aymé-Gripp Syndrome
Pericarditis, Proteinuria, Short stature, Pericardial effusion, Postnatal growth retardation, Hyd... ORPHA:1272
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... ORPHA:3455
Jacobsen Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Hydrocephalus, Holoprosencephaly, Atrial se... OMIM:147791
H Syndrome
Diabetes mellitus, Short stature, Hydrocephalus, Hypogonadism, Delayed puberty, Micropenis, Enlar... ORPHA:168569
Megalocornea-Intellectual Disability Syndrome
Abnormal repetitive mannerisms, Ataxia ORPHA:2479
Spondyloepimetaphyseal Dysplasia, Krakow Type
Atrial septal defect, Decreased serum insulin-like growth factor 1, Rhizomelia, Hydrocephalus OMIM:618162
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Limb dystonia ORPHA:457351
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hydrocephalus, Nasofrontal encephalocele, Small pituitary gland, Ventriculomegaly OMIM:614195
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
Communicating hydrocephalus, Endocardial fibroelastosis OMIM:600559
Fanconi Anemia, Complementation Group L
Hydrocephalus, Attention deficit hyperactivity disorder OMIM:614083
Muenke Syndrome
Hydrocephalus ORPHA:53271
Spondyloenchondrodysplasia
Abnormal lateral ventricle morphology, Chorea, Ventriculomegaly ORPHA:1855
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Hydrocephalus, Supranuclear... OMIM:231005
Hydroxykynureninuria
Abnormal repetitive mannerisms ORPHA:79155
Peho Syndrome
Microcephaly, Hydrocephalus, Porencephalic cyst, Cerebral cortical atrophy, Ventriculomegaly ORPHA:2836
Dextrocardia
Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormality of the ureter, Abnormal heart mo... ORPHA:1666
White-Sutton Syndrome
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor... ORPHA:468678
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Short stature, Hydrocephalus, Mucopolysacchariduria, Abnormal ao... ORPHA:579
White-Kernohan Syndrome
Hydroureter, Dysplastic corpus callosum, Obesity, Horseshoe kidney, Attention deficit hyperactivi... OMIM:619426
Wiedemann-Rautenstrauch Syndrome
Small for gestational age, Hypospadias, Short stature, Secundum atrial septal defect, Hydrocephal... OMIM:264090
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Short attention span, Abnormal repetitive mannerisms, Obesity, Aggressive behavior OMIM:301066
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Lateral ventricle dilatation, Intention tremor OMIM:619995
Alpha-Mannosidosis, Infantile Form
Communicating hydrocephalus, Short attention span, Ataxia, Confusion, Depression ORPHA:309282
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Crossed fused renal ectopia, Ventricular septal defect, Short... OMIM:147920
Gaucher Disease
Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morphology, Pro... ORPHA:355
Arteriovenous Malformations Of The Brain
Cerebral arteriovenous malformation OMIM:108010
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Short stature ORPHA:2720
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Pericardial effusion, Hydrocephalus, Increased myocardial glycogen content, Biventr... OMIM:261740
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Kinsship Syndrome
Dandy-Walker malformation, Bruxism, Failure to thrive, Abnormal repetitive mannerisms, Ventriculo... OMIM:619297
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Nephrocalcinosis, Compulsive behaviors,... ORPHA:904
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal repetitive mannerisms, Lobar holoprosencephaly, Self-injurious behavior, Severe failure ... ORPHA:468631
Peters Plus Syndrome
Ureteral duplication, Bicuspid pulmonary valve, Spina bifida occulta, Multicystic kidney dysplasi... ORPHA:709
Marfanoid-Progeroid-Lipodystrophy Syndrome
Lateral ventricular asymmetry, Hydrocephalus, Intrauterine growth retardation, Mitral valve prolapse OMIM:616914
Cockayne Syndrome B
Renal insufficiency, Severe short stature, Small for gestational age, Proteinuria, Microcephaly, ... OMIM:133540
Chromosome 17P13.1 Deletion Syndrome
Poor head control, Diffuse cerebral atrophy, Spina bifida, Microcephaly, Hydrocephalus OMIM:613776
Chilton-Okur-Chung Neurodevelopmental Syndrome
Communicating hydrocephalus, Crossed fused renal ectopia, Septo-optic dysplasia, Hypospadias, Ant... OMIM:619841
Cockayne Syndrome A
Renal insufficiency, Proteinuria, Short stature, Microcephaly, Basal ganglia calcification, Cereb... OMIM:216400
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Cachexia, Aortic valve calcification, Hydrocephalus, Ophthalmoplegia,... ORPHA:2072
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cerebral atrophy, Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, G... OMIM:616084
Khan-Khan-Katsanis Syndrome
Colpocephaly, Failure to thrive, Ventriculomegaly, Dysphagia OMIM:618460
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Choroid plexus cyst, Hydrocephalus, Polycystic kidney dysplasia OMIM:617866
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Ventriculomegaly, Failure to thrive in infancy, Unilateral renal ag... ORPHA:500150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Pain insensitivity, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious be... OMIM:620330
Mend Syndrome
Crossed fused renal ectopia, Hyperactivity, Short stature, Hydrocephalus, Aortic valve stenosis, ... OMIM:300960
Hydrolethalus Syndrome 1
Hypospadias, Ventricular septal defect, Absent septum pellucidum, Abnormal cortical gyration, Com... OMIM:236680
Phace Syndrome
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebral arteriovenous malformation ORPHA:42775
Peters-Plus Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Rhizomelia, Microcephaly, Postnatal... OMIM:261540
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Cryptococcosis
Mental deterioration, Memory impairment, Hydrocephalus ORPHA:1546
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Tetrasomy 9P
Pericarditis, Hyperactivity, Dextrocardia, Polymicrogyria, Hydrocephalus, Horseshoe kidney, Abnor... ORPHA:3310
Cole-Carpenter Syndrome 1
Communicating hydrocephalus, Hydrocephalus OMIM:112240
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... OMIM:619534
Neurofibromatosis Type 1
Ataxia, Hydrocephalus, Paresthesia, Attention deficit hyperactivity disorder, Memory impairment ORPHA:636
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Encephalocele, Hydrocephalus, Neonatal short-limb short stature, Severe short stature OMIM:224400
Hec Syndrome
Communicating hydrocephalus, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
Osteootohepatoenteric Syndrome
Hydrocephalus, Failure to thrive, Weight loss OMIM:619377
Osteopetrosis, Autosomal Recessive 2
Hydrocephalus OMIM:259710
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Athetosis, Colpocephaly, Failure to thrive, Agenesis of corpus callosum OMIM:614866
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly, Failure to thrive, Ataxia, Dystonia OMIM:620083
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum, Aggressive be... ORPHA:464738
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Hydrocephalus, Hypoplasia of the corpus callosum, Cerebral atrophy OMIM:618590
Shprintzen-Goldberg Craniosynostosis Syndrome
Hydrocephalus, Microcephaly, Abdominal wall muscle weakness, Mitral valve prolapse OMIM:182212
Hajdu-Cheney Syndrome
Ventricular septal defect, Mitral stenosis, Hypospadias, Short stature, Hydrocephalus, Multiple r... ORPHA:955
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Coccidioidomycosis
CSF pleocytosis, Hydrocephalus, CSF lymphocytic pleiocytosis, Cognitive impairment, Hypoglycorrha... ORPHA:228123
Fontaine Progeroid Syndrome
Atrial septal defect, Bicuspid aortic valve, Small for gestational age, Short stature, Microcepha... OMIM:612289
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failure to thrive, Abnor... ORPHA:513456
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Proteus-Like Syndrome
Communicating hydrocephalus, Hydrocephalus, Abnormality of the parathyroid gland, Thymus hyperplasia ORPHA:2969
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Hypospadias, Short stature, Microcephaly, Hydrocephalus, Atrial septal... ORPHA:163979
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Communicating hydrocephalus, Megalencephaly, Large for gestational age, Diffuse white matter abno... ORPHA:457359
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Hyperactivity, Ataxia, Aggressive behavior, Dysmetria, Gait ataxia, Hand tremor, Attention defici... OMIM:614756
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Microcephaly, External ophthalmoplegia, Megalencephaly, Hydrocephalus, Ventriculomegaly OMIM:613603
Osteopetrosis, Autosomal Recessive 7
Growth delay, Lateral ventricle dilatation, Hydrocephalus OMIM:612301
Pauci-Immune Glomerulonephritis
Granulomatosis, Elevated circulating creatinine concentration, Pancreatitis ORPHA:93126
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... ORPHA:99829
Witteveen-Kolk Syndrome
Hyperactivity, Small for gestational age, Decreased response to growth hormone stimulation test, ... OMIM:613406
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Small for gestational age, Failure to thrive, Abnormal repetitive mannerisms, Vent... ORPHA:464306
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Communicating hydrocephalus, Short stature, Unilateral renal agenesis ORPHA:1064
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal repetitive mannerisms, Ventriculomegaly, Opisthotonus ORPHA:508533
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Plasminogen Deficiency, Type I
Ventriculomegaly, Hydrocephalus, Nephrolithiasis, Nephritis, Dandy-Walker malformation OMIM:217090
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Hajdu-Cheney Syndrome
Hypospadias, Ventricular septal defect, Short stature, Hydrocephalus, Renal cyst, Polycystic kidn... OMIM:102500
Cerebrooculonasal Syndrome
Encephalocele, Ventriculomegaly, Postnatal growth retardation, Hydrocephalus, Hypoplasia of the c... OMIM:605627
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydrocephalus, Ureteral triplication, Hydronephrosis, Mitral valve prolapse OMIM:104350
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Cousin Syndrome
Rhizomelia, Hydrocephalus, Disproportionate short stature, Hydranencephaly, Hydronephrosis OMIM:260660
Raine Syndrome
Cerebral calcification, Hydroureter, Short stature, Microcephaly, Hydrocephalus, Hydronephrosis OMIM:259775
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Elevated circ... ORPHA:91500
Meckel Syndrome, Type 6
Occipital encephalocele, Hydrocephalus, Anencephaly, Renal cyst, Horseshoe kidney OMIM:612284
Basal Cell Nevus Syndrome 2
Hydrocephalus OMIM:620343
Meckel Syndrome
Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, Microcephaly, Situs inversus t... ORPHA:564
Distal 22Q11.2 Microduplication Syndrome
Hydrocephalus, Attention deficit hyperactivity disorder ORPHA:261337
Mucopolysaccharidosis, Type Vi
Short stature, Hydrocephalus, Disproportionate short-trunk short stature, Dermatan sulfate excret... OMIM:253200
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Short stature, Unilateral renal agenesis, Microcephaly, Aqueductal ste... OMIM:154400
Achondroplasia
Hydrocephalus, Neonatal short-limb short stature, Rhizomelia, Megalencephaly OMIM:100800
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Microcephaly, Hydrocephalus, Renal hypoplasia, Abdominal obesity, Hypoplasia of th... OMIM:619321
Pfeiffer Syndrome
Hydrocephalus OMIM:101600
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Short stature, Hydrocephalus, Abnormal heart morphology, Mitral valve ... ORPHA:363700
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Pfeiffer Syndrome Type 2
Aqueductal stenosis, Hydrocephalus ORPHA:93259
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, Microcephaly, Mitral valve prolapse, Abnormal aortic valve morpholog... ORPHA:2462
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Lhermitte-Duclos Disease
Hydrocephalus, Ataxia ORPHA:65285
Crouzon Syndrome
Hydrocephalus OMIM:123500
Thoracoabdominal Syndrome
Hypospadias, Hydrocephalus, Anencephaly, Transposition of the great arteries, Ectopia cordis OMIM:313850
Hypotonia, Ataxia, And Delayed Development Syndrome
Pain insensitivity, Ataxia, Truncal ataxia, Dysmetria, Gait ataxia, Dysphagia, Abnormal repetitiv... OMIM:617330
Oculocerebrorenal Syndrome Of Lowe
Depression, Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disord... ORPHA:534
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hydrocephalus ORPHA:1555
Large Congenital Melanocytic Nevus
Hydrocephalus ORPHA:626
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Hyperparathyroidism, Ventriculomegaly, Unilateral renal agenesis, En... OMIM:618188
Costello Syndrome
Renal insufficiency, Ventricular septal defect, Short stature, Hydrocephalus, Cerebral atrophy, M... OMIM:218040
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Atrial septal defect, Hydrocephalus OMIM:207410
Osteogenesis Imperfecta
Abnormal endocardium morphology, Small for gestational age, Short stature, Rhizomelia, Hydrocepha... ORPHA:666
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Linear Skin Defects With Multiple Congenital Anomalies 3
Lateral ventricle dilatation, Failure to thrive, Agenesis of corpus callosum OMIM:300952
Dihydropyrimidine Dehydrogenase Deficiency
Irritability, Abnormal social behavior, Abnormal aggressive, impulsive or violent behavior ORPHA:1675
Mohr Syndrome
Hydrocephalus, Porencephalic cyst, Short stature OMIM:252100
Developmental And Epileptic Encephalopathy 2
Abnormal repetitive mannerisms OMIM:300672
Norrie Disease
Diabetes mellitus, Cachexia, Microcephaly, Abnormality of the diencephalon, Irritability, Self-in... ORPHA:649
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Postnatal growth retardation, Hydrocephalus, Mitral valve prolapse ORPHA:536467
Pseudoaminopterin Syndrome
Short stature, Ophthalmoplegia, Hydrocephalus, Horseshoe kidney, Fatigable weakness, Patent foram... ORPHA:221120
Exstrophy-Epispadias Complex
Renal insufficiency, Urinary incontinence, Spina bifida, Microcephaly, Epispadias, Penoscrotal tr... ORPHA:322
Campomelic Dysplasia
Hypospadias, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Neonatal ... OMIM:114290
Lymphangioleiomyomatosis
Hydrocephalus, Cognitive impairment ORPHA:538
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Fraser Syndrome 1
Encephalocele, Hypospadias, Abnormal cortical gyration, Microcephaly, Myelomeningocele, Hydroceph... OMIM:219000
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Dystonia ORPHA:79255
Beemer-Ertbruggen Syndrome
Communicating hydrocephalus ORPHA:1237
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Knobloch Syndrome
Occipital encephalocele, Dextrocardia, Hydrocephalus, Vesicoureteral reflux, Bifid ureter ORPHA:1571
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Agenesis of corpus callosum, Spina bifida, Abnormal repetitive mannerisms, Ventriculomegaly ORPHA:508498
Basal Cell Nevus Syndrome 1
Spina bifida, Hydrocephalus, Cardiac fibroma, Cardiac rhabdomyoma, Calcification of falx cerebri OMIM:109400
Coffin-Siris Syndrome 12
Hypospadias, Short stature, Facial palsy, Microcephaly, Patent foramen ovale, Abnormal repetitive... OMIM:619325
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Trichotillomania
Hair-pulling, Compulsive behaviors OMIM:613229
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Hypospadias, Hydrocephalus, Renal cyst, Cardiomyopathy, Duplication of... OMIM:312870
Townes-Brocks Syndrome 1
Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Small for gestation... OMIM:107480
6Q Terminal Deletion Syndrome
Obesity, Dysmetria, Gait ataxia, Colpocephaly, Failure to thrive ORPHA:75857
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Baller-Gerold Syndrome
Severe short stature, Short stature, Hydrocephalus, Abnormal heart morphology, Severe intrauterin... OMIM:218600
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Small for gestational age, Hyperactivity, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:309590
Cole-Carpenter Syndrome
Communicating hydrocephalus, Intrauterine growth retardation, Short stature ORPHA:2050
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Laurin-Sandrow Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum ORPHA:2378
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Abnormal repetitive mannerisms OMIM:301040
Neurofibromatosis, Type I
Short stature, Spina bifida, Aqueductal stenosis, Hydrocephalus, Pheochromocytoma, Renal artery s... OMIM:162200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Ventriculomegaly, Microcephaly, Hydrocephalus, Generalized muscle weakness, Aplasia/Hypoplasia of... OMIM:253280
1P36 Deletion Syndrome
Abnormal repetitive mannerisms, Polyphagia, Obesity, Self-injurious behavior, Dysphagia, Failure ... ORPHA:1606
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Communicating hydrocephalus, Large for gestational age, Ventriculomegaly, Gait ataxia OMIM:617011
Vacterl With Hydrocephalus
Aqueductal stenosis, Hydrocephalus, Spina bifida ORPHA:3412
Focal Dermal Hypoplasia
Ureteral duplication, Short stature, Microcephaly, Hydrocephalus, Myelomeningocele, Spina bifida ... OMIM:305600
Ciliary Dyskinesia, Primary, 43
Noncommunicating hydrocephalus OMIM:618699
Coffin-Siris Syndrome 1
Hydroureter, Ventricular septal defect, Hypospadias, Short stature, Ectopic kidney, Microcephaly,... OMIM:135900
Primrose Syndrome
Restlessness, Ataxia, Aggressive behavior, Self-injurious behavior, Truncal obesity, Tics, Attent... OMIM:259050
Ogden Syndrome
Torticollis, Irritability, Dysphagia, Abnormal repetitive mannerisms, Ventriculomegaly OMIM:300855
Icf Syndrome
Communicating hydrocephalus, Short stature ORPHA:2268
Ciliary Dyskinesia, Primary, 1
Male infertility OMIM:244400
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Obesity OMIM:618653
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis... OMIM:619522
Isolated Posterior Meningocele
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Occipital meningocele ORPHA:268810
Microphthalmia With Limb Anomalies
Hydrocephalus, Failure to thrive, Short stature, Horseshoe kidney ORPHA:1106
Absent Radius-Anogenital Anomalies Syndrome
Hydrocephalus ORPHA:3016
Trichorhinophalangeal Syndrome, Type Ii
Cerebral arteriovenous malformation OMIM:150230
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s... ORPHA:573278
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation, Failure to thrive, Opisthotonus OMIM:614098
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Abnormal repetitive mannerisms, Ventriculomegaly, Aggressive behavior OMIM:309000
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation OMIM:175050
Holoprosencephaly 13, X-Linked
Colpocephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly OMIM:301043
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of penis, Hydrocephalus OMIM:617667
Juvenile Polyposis Syndrome
Failure to thrive, Cerebral arteriovenous malformation ORPHA:2929
Sacral Defect With Anterior Meningocele
Myeloschisis, Hydrocephalus, Meningocele, Myelomeningocele, Dermal sinus tract OMIM:600145
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus ORPHA:2736
Fetal Akinesia Deformation Sequence 1
Small for gestational age, Absent septum pellucidum, Hydrocephalus, Cavum septum pellucidum, Intr... OMIM:208150
Arboleda-Tham Syndrome
Dystonia, Abnormal repetitive mannerisms, Dysphagia OMIM:616268
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation, Failure to thrive, Small for gestational age OMIM:619869
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Tremor, Self-injurious behavior, Truncal obesity, Failure to thrive, Abnormal repetitive mannerisms OMIM:612474
Autosomal Recessive Malignant Osteopetrosis
Growth delay, Hydrocephalus, Abnormal pulmonary valve morphology ORPHA:667
Oeis Complex
Hydroureter, Epispadias, Vesicovaginal fistula, Myelomeningocele, Hydrocephalus, Micropenis, Pelv... OMIM:258040
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Exaggerated startle response, Dystonia, Stereotypical hand wringing, Dysphagia ORPHA:438213
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Abnormal repetitive mannerisms, Semilobar holoprosencephaly OMIM:301044
Telangiectasia, Hereditary Hemorrhagic, Type 4
Cerebral arteriovenous malformation OMIM:610655
Otopalatodigital Syndrome, Type Ii
Hypospadias, Short stature, Spina bifida, Postnatal growth retardation, Hydrocephalus, Atrial sep... OMIM:304120
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hypospadias, Microcephaly, Postnatal growth retardation, Hydrocephalus... OMIM:268300
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... OMIM:609192
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Craniofacial Microsomia 1
Occipital encephalocele, Multicystic kidney dysplasia, Ventricular septal defect, Ectopic kidney,... OMIM:164210
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation OMIM:600376
Tetraamelia Syndrome 1
Adrenal gland agenesis, Hydrocephalus, Urethral atresia OMIM:273395
Telangiectasia, Hereditary Hemorrhagic, Type 1
Cerebral arteriovenous malformation OMIM:187300
Mowat-Wilson Syndrome
Ataxia, Impaired pain sensation, Abnormal repetitive mannerisms, Bruxism, Impaired social interac... ORPHA:2152
Hypoplasminogenemia
Hydrocephalus, Nephrolithiasis, Dandy-Walker malformation ORPHA:722
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Hydrocephalus, Bicuspid pulmonary valve, Mitral valve prolapse, Atrial sep... OMIM:610168
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum, Dysphagia OMIM:606170
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hydrocephalus, Hypogonadism, Short stature ORPHA:3042
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Impaired pain sensation, Abnormal repetitive mannerisms, Bruxism, Lateral ventricle dilatation, D... ORPHA:261537
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Abnormal repetitive mannerisms OMIM:616682
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Schizencephaly, Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Leukoencephalopathy, Ische... OMIM:175780
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Impaired pain sensation, Abnormal repetitive mannerisms, Bruxism, Lateral ventricle dilatation, D... ORPHA:261552

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Arid1b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Arid1b.

There are 13 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Dissecting the role of SWI/SNF component ARID1B in steady state hematopoiesis. Blood advances (August 2023) Arid1btm1c(EUCOMM)Hmgu Arid1btm1a(EUCOMM)Hmgu Arid1btm1b(EUCOMM)Hmgu 37611161
Detailed characterizations of cranial nerve anatomy in E14.5 mouse embryos/fetuses and their use as reference for diagnosing subtle, but potentially lethal malformations in mutants. Frontiers in cell and developmental biology (November 2022) Arid1btm1b(EUCOMM)Hmgu PMC9682249
Early postnatal serotonin modulation prevents adult-stage deficits in Arid1b-deficient mice through synaptic transcriptional reprogramming. Nature communications (August 2022) Arid1btm1a(EUCOMM)Hmgu PMC9420115
Genetic mouse models of autism spectrum disorder present subtle heterogenous cardiac abnormalities. Autism research : official journal of the International Society for Autism Research (April 2022) Arid1bem1(IMPC)Tcp PMC9325472
Neuroanatomy and behavior in mice with a haploinsufficiency of AT-rich interactive domain 1B (ARID1B) throughout development. Molecular autism (March 2021) Arid1bem1(IMPC)Tcp PMC7986278
Differential roles of ARID1B in excitatory and inhibitory neural progenitors in the developing cortex. Scientific reports (February 2021) Arid1btm1c(EUCOMM)Hmgu PMC7886865
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Arid1btm1b(EUCOMM)Hmgu PMC7263671
Arid1b haploinsufficiency in parvalbumin- or somatostatin-expressing interneurons leads to distinct ASD-like and ID-like behavior. Scientific reports (May 2020) Arid1btm1c(EUCOMM)Hmgu PMC7217886
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation. Nature immunology (December 2019) Arid1btm1b(EUCOMM)Hmgu PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Arid1btm1b(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Arid1btm1b(EUCOMM)Wtsi PMC6459510
Arid1b haploinsufficiency disrupts cortical interneuron development and mouse behavior. Nature neuroscience (November 2017) Arid1btm1c(EUCOMM)Hmgu Arid1btm1a(EUCOMM)Hmgu Arid1btm1b(EUCOMM)Hmgu PMC5726525
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Arid1btm1b(EUCOMM)Hmgu PMC5827107

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MGI Allele Allele Type Produced
Arid1bem1(IMPC)Tcp Exon Deletion Mice
Arid1btm42688(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arid1btm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Arid1btm47092(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arid1btm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Arid1btm42688(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Arid1btm1(IMPC)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, ES Cells
Arid1btm1.2(IMPC)Wtsi Reporter-tagged deletion allele (post Flp, with no reporter and selection cassette) Mice
Arid1btm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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